Dorus E, Amarose A P, Tredway D R, Reale F R, Hatch R, Serrano L F
Clin Genet. 1979 Oct;16(4):263-9.
A 24-year-old female patient was referred for evaluation of primary amenorrhea. Endocrine studies showed elevated gonadotropins, consistent with gonadal failure. At laparoscopy, a normal nulligravid uterus, normal fallopian tubes, and bilateral streak gonads were observed. Histologic studies showed that the left gonad consisted entirely of fibrous tissue, confirming the presence of streak gonads. Chromosome banding studies of peripheral blood and cultures of tissue from the left gonad demonstrated a 46,X,rcp(X;11)(q22;q13) karyotype. A review of reports of X-autosome reciprocal translocations indicated that abnormal gonadal development is associated with break-points in the mid-region of the long arm of the X chromosome.
一名24岁女性患者因原发性闭经前来评估。内分泌研究显示促性腺激素升高，符合性腺功能衰竭。腹腔镜检查发现子宫正常未孕，输卵管正常，双侧条索状性腺。组织学研究表明左侧性腺完全由纤维组织构成，证实存在条索状性腺。外周血染色体显带研究及左侧性腺组织培养显示核型为46,X,rcp(X;11)(q22;q13)。对X染色体与常染色体相互易位报告的回顾表明，性腺发育异常与X染色体长臂中部的断点有关。
